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Article

Exome sequencing identifies a novel homozygous CLN8 mutation in a Turkish family with Northern epilepsy.

Acta neurologica Belgica - 1 Mar 2017

Sahin Yavuz, Güngör Olcay, Gormez Zeliha, Demirci Huseyin, Ergüner Bekir, Güngör Gülay, Dilber Cengiz

Abstract excerpt

Neuronal ceroid lipofuscinosis (NCL), one of the most common neurodegenerative childhood-onset disorders, is characterized by autosomal-recessive inheritance, epileptic seizures, progressive psychomotor deterioration, visual impairment, and premature death. Based on the country of origin of the patients, the clinical features/courses, and the molecular genetics background of the disorder, 14 distinct NCL subtypes...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 27844444
DOI: 10.1007/s13760-016-0721-3

Genes

CLN8
NCL

Variants

Provenance

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